| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24240614G>A | CA389225328 | TINF2 | c.866C>T (p.Pro289Leu) c.758C>T (p.Pro253Leu) c.761C>T (p.Pro254Leu) c.428C>T (p.Pro143Leu) c.*238C>T (p.=) n.592C>T n.757+65C>T c.*246C>T (p.=) c.224C>T (p.Pro75Leu) | |
| 14 | g.24240614G>C | CA389225332 | TINF2 | c.866C>G (p.Pro289Arg) c.758C>G (p.Pro253Arg) c.761C>G (p.Pro254Arg) c.428C>G (p.Pro143Arg) c.*238C>G (p.=) n.592C>G n.757+65C>G c.*246C>G (p.=) c.224C>G (p.Pro75Arg) | |
| 14 | g.24240614G>T | CA389225334 | TINF2 | c.866C>A (p.Pro289His) c.758C>A (p.Pro253His) c.761C>A (p.Pro254His) c.428C>A (p.Pro143His) c.*238C>A (p.=) n.592C>A n.757+65C>A c.*246C>A (p.=) c.224C>A (p.Pro75His) | |
| 14 | g.24240614_24240615delinsCT | CA343191 | TINF2 | c.865_866delinsAG (p.Pro289Ser) c.757_758delinsAG (p.Pro253Ser) c.760_761delinsAG (p.Pro254Ser) c.427_428delinsAG (p.Pro143Ser) c.*237_*238delinsAG (p.=) n.591_592delinsAG n.757+64_757+65delinsAG c.*245_*246delinsAG (p.=) c.223_224delinsAG (p.Pro75Ser) | ClinVar dbSNP |
| 14 | g.24240614_24240615delinsGG | CA2123849290 | TINF2 | c.865_866delinsCC (p.Pro289=) c.757_758delinsCC (p.Pro253=) c.760_761delinsCC (p.Pro254=) c.427_428delinsCC (p.Pro143=) c.*237_*238delinsCC (p.=) n.591_592delinsCC n.757+64_757+65delinsCC c.*245_*246delinsCC (p.=) c.223_224delinsCC (p.Pro75=) | |
| 14 | g.24240615G>A | CA389225339 | TINF2 | c.865C>T (p.Pro289Ser) c.757C>T (p.Pro253Ser) c.760C>T (p.Pro254Ser) c.427C>T (p.Pro143Ser) c.*237C>T (p.=) n.591C>T n.757+64C>T c.*245C>T (p.=) c.223C>T (p.Pro75Ser) | ClinVar |
| 14 | g.24240615G>C | CA389225345 | TINF2 | c.865C>G (p.Pro289Ala) c.757C>G (p.Pro253Ala) c.760C>G (p.Pro254Ala) c.427C>G (p.Pro143Ala) c.*237C>G (p.=) n.591C>G n.757+64C>G c.*245C>G (p.=) c.223C>G (p.Pro75Ala) | |
| 14 | g.24240615G= | CA2123849291 | TINF2 | c.865C= (p.Pro289=) c.757C= (p.Pro253=) c.760C= (p.Pro254=) c.427C= (p.Pro143=) c.*237C= (p.=) n.591C= n.757+64C= c.*245C= (p.=) c.223C= (p.Pro75=) | |
| 14 | g.24240615G>T | CA389225348 | TINF2 | c.865C>A (p.Pro289Thr) c.757C>A (p.Pro253Thr) c.760C>A (p.Pro254Thr) c.427C>A (p.Pro143Thr) c.*237C>A (p.=) n.591C>A n.757+64C>A c.*245C>A (p.=) c.223C>A (p.Pro75Thr) | |
| 14 | g.24240616A>C | CA389225356 | TINF2 | c.864T>G (p.Phe288Leu) c.756T>G (p.Phe252Leu) c.759T>G (p.Phe253Leu) c.426T>G (p.Phe142Leu) c.*236T>G (p.=) n.590T>G n.757+63T>G c.*244T>G (p.=) c.222T>G (p.Phe74Leu) | |
| 14 | g.24240616A>G | CA485782125 | TINF2 | c.864T>C (p.Phe288=) c.756T>C (p.Phe252=) c.759T>C (p.Phe253=) c.426T>C (p.Phe142=) c.*236T>C (p.=) n.590T>C n.757+63T>C c.*244T>C (p.=) c.222T>C (p.Phe74=) | |
| 14 | g.24240616A>T | CA389225360 | TINF2 | c.864T>A (p.Phe288Leu) c.756T>A (p.Phe252Leu) c.759T>A (p.Phe253Leu) c.426T>A (p.Phe142Leu) c.*236T>A (p.=) n.590T>A n.757+63T>A c.*244T>A (p.=) c.222T>A (p.Phe74Leu) | |
| 14 | g.24240617A>C | CA389225371 | TINF2 | c.863T>G (p.Phe288Cys) c.755T>G (p.Phe252Cys) c.758T>G (p.Phe253Cys) c.425T>G (p.Phe142Cys) c.*235T>G (p.=) n.589T>G n.757+62T>G c.*243T>G (p.=) c.221T>G (p.Phe74Cys) | |
| 14 | g.24240617A>G | CA389225377 | TINF2 | c.863T>C (p.Phe288Ser) c.755T>C (p.Phe252Ser) c.758T>C (p.Phe253Ser) c.425T>C (p.Phe142Ser) c.*235T>C (p.=) n.589T>C n.757+62T>C c.*243T>C (p.=) c.221T>C (p.Phe74Ser) | |
| 14 | g.24240617A>T | CA389225386 | TINF2 | c.863T>A (p.Phe288Tyr) c.755T>A (p.Phe252Tyr) c.758T>A (p.Phe253Tyr) c.425T>A (p.Phe142Tyr) c.*235T>A (p.=) n.589T>A n.757+62T>A c.*243T>A (p.=) c.221T>A (p.Phe74Tyr) | |
| 14 | g.24240618A= | CA2123849292 | TINF2 | c.862T= (p.Phe288=) c.754T= (p.Phe252=) c.757T= (p.Phe253=) c.424T= (p.Phe142=) c.*234T= (p.=) n.588T= n.757+61T= c.*242T= (p.=) c.220T= (p.Phe74=) | |
| 14 | g.24240618A>C | CA389225396 | TINF2 | c.862T>G (p.Phe288Val) c.754T>G (p.Phe252Val) c.757T>G (p.Phe253Val) c.424T>G (p.Phe142Val) c.*234T>G (p.=) n.588T>G n.757+61T>G c.*242T>G (p.=) c.220T>G (p.Phe74Val) | |
| 14 | g.24240618A>G | CA343189 | TINF2 | c.862T>C (p.Phe288Leu) c.754T>C (p.Phe252Leu) c.757T>C (p.Phe253Leu) c.424T>C (p.Phe142Leu) c.*234T>C (p.=) n.588T>C n.757+61T>C c.*242T>C (p.=) c.220T>C (p.Phe74Leu) | ClinVar dbSNP |
| 14 | g.24240618A>T | CA389225391 | TINF2 | c.862T>A (p.Phe288Ile) c.754T>A (p.Phe252Ile) c.757T>A (p.Phe253Ile) c.424T>A (p.Phe142Ile) c.*234T>A (p.=) n.588T>A n.757+61T>A c.*242T>A (p.=) c.220T>A (p.Phe74Ile) | |
| 14 | g.24240619C>A | CA485782126 | TINF2 | c.861G>T (p.Leu287=) c.753G>T (p.Leu251=) c.756G>T (p.Leu252=) c.423G>T (p.Leu141=) c.*233G>T (p.=) n.587G>T n.757+60G>T c.*241G>T (p.=) c.219G>T (p.Leu73=) | |
| 14 | g.24240619C= | CA2123849293 | TINF2 | c.861G= (p.Leu287=) c.753G= (p.Leu251=) c.756G= (p.Leu252=) c.423G= (p.Leu141=) c.*233G= (p.=) n.587G= n.757+60G= c.*241G= (p.=) c.219G= (p.Leu73=) | |
| 14 | g.24240619C>G | CA7130552 | TINF2 | c.861G>C (p.Leu287=) c.753G>C (p.Leu251=) c.756G>C (p.Leu252=) c.423G>C (p.Leu141=) c.*233G>C (p.=) n.587G>C n.757+60G>C c.*241G>C (p.=) c.219G>C (p.Leu73=) | ClinVar dbSNP ExAC gnomAD |
| 14 | g.24240619C>T | CA485782127 | TINF2 | c.861G>A (p.Leu287=) c.753G>A (p.Leu251=) c.756G>A (p.Leu252=) c.423G>A (p.Leu141=) c.*233G>A (p.=) n.587G>A n.757+60G>A c.*241G>A (p.=) c.219G>A (p.Leu73=) | |
| 14 | g.24240620A= | CA2123849294 | TINF2 | c.860T= (p.Leu287=) c.752T= (p.Leu251=) c.755T= (p.Leu252=) c.422T= (p.Leu141=) c.*232T= (p.=) n.586T= n.757+59T= c.*240T= (p.=) c.218T= (p.Leu73=) | |
| 14 | g.24240620A>C | CA389225400 | TINF2 | c.860T>G (p.Leu287Arg) c.752T>G (p.Leu251Arg) c.755T>G (p.Leu252Arg) c.422T>G (p.Leu141Arg) c.*232T>G (p.=) n.586T>G n.757+59T>G c.*240T>G (p.=) c.218T>G (p.Leu73Arg) | COSMIC COSMIC |
| 14 | g.24240620A>G | CA343187 | TINF2 | c.860T>C (p.Leu287Pro) c.752T>C (p.Leu251Pro) c.755T>C (p.Leu252Pro) c.422T>C (p.Leu141Pro) c.*232T>C (p.=) n.586T>C n.757+59T>C c.*240T>C (p.=) c.218T>C (p.Leu73Pro) | ClinVar dbSNP |
| 14 | g.24240620A>T | CA389225406 | TINF2 | c.860T>A (p.Leu287Gln) c.752T>A (p.Leu251Gln) c.755T>A (p.Leu252Gln) c.422T>A (p.Leu141Gln) c.*232T>A (p.=) n.586T>A n.757+59T>A c.*240T>A (p.=) c.218T>A (p.Leu73Gln) | |
| 14 | g.24240621G>A | CA485782128 | TINF2 | c.859C>T (p.Leu287=) c.751C>T (p.Leu251=) c.754C>T (p.Leu252=) c.421C>T (p.Leu141=) c.*231C>T (p.=) n.585C>T n.757+58C>T c.*239C>T (p.=) c.217C>T (p.Leu73=) | |
| 14 | g.24240621G>C | CA389225409 | TINF2 | c.859C>G (p.Leu287Val) c.751C>G (p.Leu251Val) c.754C>G (p.Leu252Val) c.421C>G (p.Leu141Val) c.*231C>G (p.=) n.585C>G n.757+58C>G c.*239C>G (p.=) c.217C>G (p.Leu73Val) | |
| 14 | g.24240621G>T | CA389225414 | TINF2 | c.859C>A (p.Leu287Met) c.751C>A (p.Leu251Met) c.754C>A (p.Leu252Met) c.421C>A (p.Leu141Met) c.*231C>A (p.=) n.585C>A n.757+58C>A c.*239C>A (p.=) c.217C>A (p.Leu73Met) | |
| 14 | g.24240622C>A | CA389225421 | TINF2 | c.858G>T (p.Met286Ile) c.750G>T (p.Met250Ile) c.753G>T (p.Met251Ile) c.420G>T (p.Met140Ile) c.*230G>T (p.=) n.584G>T n.757+57G>T c.*238G>T (p.=) c.216G>T (p.Met72Ile) | |
| 14 | g.24240622C>G | CA389225422 | TINF2 | c.858G>C (p.Met286Ile) c.750G>C (p.Met250Ile) c.753G>C (p.Met251Ile) c.420G>C (p.Met140Ile) c.*230G>C (p.=) n.584G>C n.757+57G>C c.*238G>C (p.=) c.216G>C (p.Met72Ile) | |
| 14 | g.24240622C>T | CA389225423 | TINF2 | c.858G>A (p.Met286Ile) c.750G>A (p.Met250Ile) c.753G>A (p.Met251Ile) c.420G>A (p.Met140Ile) c.*230G>A (p.=) n.584G>A n.757+57G>A c.*238G>A (p.=) c.216G>A (p.Met72Ile) | |
| 14 | g.24240623A>C | CA389225426 | TINF2 | c.857T>G (p.Met286Arg) c.749T>G (p.Met250Arg) c.752T>G (p.Met251Arg) c.419T>G (p.Met140Arg) c.*229T>G (p.=) n.583T>G n.757+56T>G c.*237T>G (p.=) c.215T>G (p.Met72Arg) | |
| 14 | g.24240623A>G | CA389225431 | TINF2 | c.857T>C (p.Met286Thr) c.749T>C (p.Met250Thr) c.752T>C (p.Met251Thr) c.419T>C (p.Met140Thr) c.*229T>C (p.=) n.583T>C n.757+56T>C c.*237T>C (p.=) c.215T>C (p.Met72Thr) | |
| 14 | g.24240623A>T | CA389225433 | TINF2 | c.857T>A (p.Met286Lys) c.749T>A (p.Met250Lys) c.752T>A (p.Met251Lys) c.419T>A (p.Met140Lys) c.*229T>A (p.=) n.583T>A n.757+56T>A c.*237T>A (p.=) c.215T>A (p.Met72Lys) | |
| 14 | g.24240624T>A | CA389225440 | TINF2 | c.856A>T (p.Met286Leu) c.748A>T (p.Met250Leu) c.751A>T (p.Met251Leu) c.418A>T (p.Met140Leu) c.*228A>T (p.=) n.582A>T n.757+55A>T c.*236A>T (p.=) c.214A>T (p.Met72Leu) | |
| 14 | g.24240624T>C | CA389225438 | TINF2 | c.856A>G (p.Met286Val) c.748A>G (p.Met250Val) c.751A>G (p.Met251Val) c.418A>G (p.Met140Val) c.*228A>G (p.=) n.582A>G n.757+55A>G c.*236A>G (p.=) c.214A>G (p.Met72Val) | COSMIC COSMIC |
| 14 | g.24240624T>G | CA389225437 | TINF2 | c.856A>C (p.Met286Leu) c.748A>C (p.Met250Leu) c.751A>C (p.Met251Leu) c.418A>C (p.Met140Leu) c.*228A>C (p.=) n.582A>C n.757+55A>C c.*236A>C (p.=) c.214A>C (p.Met72Leu) | |
| 14 | g.24240624T= | CA2123849295 | TINF2 | c.856A= (p.Met286=) c.748A= (p.Met250=) c.751A= (p.Met251=) c.418A= (p.Met140=) c.*228A= (p.=) n.582A= n.757+55A= c.*236A= (p.=) c.214A= (p.Met72=) | |
| 14 | g.24240625G>A | CA7130553 | TINF2 | c.855C>T (p.Val285=) c.747C>T (p.Val249=) c.750C>T (p.Val250=) c.417C>T (p.Val139=) c.*227C>T (p.=) n.581C>T n.757+54C>T c.*235C>T (p.=) c.213C>T (p.Val71=) | dbSNP ExAC gnomAD |
| 14 | g.24240625G>C | CA485782129 | TINF2 | c.855C>G (p.Val285=) c.747C>G (p.Val249=) c.750C>G (p.Val250=) c.417C>G (p.Val139=) c.*227C>G (p.=) n.581C>G n.757+54C>G c.*235C>G (p.=) c.213C>G (p.Val71=) | |
| 14 | g.24240625G= | CA2123849296 | TINF2 | c.855C= (p.Val285=) c.747C= (p.Val249=) c.750C= (p.Val250=) c.417C= (p.Val139=) c.*227C= (p.=) n.581C= n.757+54C= c.*235C= (p.=) c.213C= (p.Val71=) | |
| 14 | g.24240625G>T | CA485782130 | TINF2 | c.855C>A (p.Val285=) c.747C>A (p.Val249=) c.750C>A (p.Val250=) c.417C>A (p.Val139=) c.*227C>A (p.=) n.581C>A n.757+54C>A c.*235C>A (p.=) c.213C>A (p.Val71=) | |
| 14 | g.24240626A>C | CA389225444 | TINF2 | c.854T>G (p.Val285Gly) c.746T>G (p.Val249Gly) c.749T>G (p.Val250Gly) c.416T>G (p.Val139Gly) c.*226T>G (p.=) n.580T>G n.757+53T>G c.*234T>G (p.=) c.212T>G (p.Val71Gly) | |
| 14 | g.24240626A>G | CA389225449 | TINF2 | c.854T>C (p.Val285Ala) c.746T>C (p.Val249Ala) c.749T>C (p.Val250Ala) c.416T>C (p.Val139Ala) c.*226T>C (p.=) n.580T>C n.757+53T>C c.*234T>C (p.=) c.212T>C (p.Val71Ala) | |
| 14 | g.24240626A>T | CA389225445 | TINF2 | c.854T>A (p.Val285Asp) c.746T>A (p.Val249Asp) c.749T>A (p.Val250Asp) c.416T>A (p.Val139Asp) c.*226T>A (p.=) n.580T>A n.757+53T>A c.*234T>A (p.=) c.212T>A (p.Val71Asp) | |
| 14 | g.24240627C>A | CA389225450 | TINF2 | c.853G>T (p.Val285Phe) c.745G>T (p.Val249Phe) c.748G>T (p.Val250Phe) c.415G>T (p.Val139Phe) c.*225G>T (p.=) n.579G>T n.757+52G>T c.*233G>T (p.=) c.211G>T (p.Val71Phe) | |
| 14 | g.24240627C>G | CA389225451 | TINF2 | c.853G>C (p.Val285Leu) c.745G>C (p.Val249Leu) c.748G>C (p.Val250Leu) c.415G>C (p.Val139Leu) c.*225G>C (p.=) n.579G>C n.757+52G>C c.*233G>C (p.=) c.211G>C (p.Val71Leu) | |
| 14 | g.24240627C>T | CA389225452 | TINF2 | c.853G>A (p.Val285Ile) c.745G>A (p.Val249Ile) c.748G>A (p.Val250Ile) c.415G>A (p.Val139Ile) c.*225G>A (p.=) n.579G>A n.757+52G>A c.*233G>A (p.=) c.211G>A (p.Val71Ile) |